ClinVar Miner

List of variants studied for Marfan and Marfan-related disorder by Center of Excellence for Medical Genomics, Chulalongkorn University

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser) rs555682061 0.00002
NM_000138.5(FBN1):c.3159C>G (p.Cys1053Trp) rs886039054
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe) rs794728237
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391

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